Hi, my name is Sarah and I was diagnosed with type 1 Gaucher Disease when I was only 2 years old. I just remember having a lot of nose bleeds for no reason, and one day my dad took me to the doctor’s office where I was diagnosed with Gaucher disease. I remember my mom crying a lot when my dad told her. I didn’t really understand. My dad told me the reason I have Gaucher is because I have a deficit of the enzyme glucocerebrosidase. I didn’t think much of it then. He would tell me 1 per 40,000 to 1 per 75,000 people had it, and said I was very special for that. He told me I would be okay. My doctor would always say, “People with Gaucher’s Disease have very low levels of enzyme activity. Low levels of enzyme activity can be treated by enzyme replacement or in extreme cases, bone marrow transplant. Sometimes, doctors like myself, will check levels of the enzyme associated with the disease, and sometimes through genetic analysis.”
Gaucher disease is autosomal recessive meaning that both of my parents must have Gaucher Disease for it to be passed on. I then realized my parents both had it, and it never clicked for me. They had all the symptoms I did; they just didn’t want me to worry. Then I got terrible news in the middle of the school day in a February. My mother just died from Gauchers type 3. She died. I couldn’t believe it. I couldn’t go to school for weeks after she died, I was a mess. Fear quickly took over my life. That’s when it got worse for me. My bones ached more, and the nose bleeds became more consistent. I couldn’t sleep, which affected my grades majorly. I had to repeat sixth grade. I learned how to be more independent and take care of myself. I have recently been accepted into the college of William and Mary studying business ownership. I am going to make a business specified into helping people with Gaucher Disease.